Variant report

Variant	rs1795390
Chromosome Location	chr9:86563118-86563119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:86562110..86564008-chr9:86566569..86568796,2	K562	blood:
2	chr9:86562055..86565176-chr9:86569672..86571834,3	MCF-7	breast:
3	chr9:86561645..86563612-chr9:86594555..86596170,2	MCF-7	breast:
4	chr9:86561198..86563897-chr9:86600302..86603108,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178966	Chromatin interaction
ENSG00000165118	Chromatin interaction
ENSG00000165119	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1191288	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1191290	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1191293	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1191296	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1191297	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1191300	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1191309	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1211513	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12487633	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13434156	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1397824	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1511432	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1588538	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1688683	0.81[ASN][1000 genomes]
rs17195196	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs173087	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1795387	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1795392	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1795404	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2141658	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2331521	0.85[ASN][1000 genomes]
rs2331527	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2331709	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs234997	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2656043	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2656048	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2701057	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs338958	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs338959	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs338969	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs338973	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs338979	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs338981	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs338983	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs338986	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs338994	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs338996	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs339000	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs339006	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs339011	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34168323	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35345840	0.85[ASN][1000 genomes]
rs35645356	0.86[EUR][1000 genomes]
rs3845849	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3856575	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3914744	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4048751	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4510329	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4630876	0.85[ASN][1000 genomes]
rs58688375	0.88[ASN][1000 genomes]
rs60648200	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6775508	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6784156	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6805670	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6807604	0.85[ASN][1000 genomes]
rs7615712	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7615991	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7616466	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7635903	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7648360	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9844667	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9853078	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9860056	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9866746	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469859	chr9:86398152-86587957	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv482641	chr9:86398152-86587957	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv2758192	chr9:86414024-86603602	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2759701	chr9:86414024-86603602	Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv8541	chr9:86469723-86593758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv831644	chr9:86534310-86704395	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	esv3366490	chr9:86541369-86608868	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
8	nsv1043703	chr9:86545917-86603545	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86536600-86571000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:86543000-86571000	Weak transcription	Esophagus	oesophagus
3	chr9:86547200-86570200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr9:86548000-86567000	Weak transcription	GM12878-XiMat	blood
5	chr9:86549000-86570200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr9:86550200-86570400	Weak transcription	Aorta	Aorta
7	chr9:86550400-86569200	Weak transcription	Fetal Heart	heart
8	chr9:86550400-86570400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:86550600-86569000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:86550800-86563800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:86550800-86568800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr9:86550800-86570400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:86551000-86570400	Weak transcription	Stomach Mucosa	stomach
14	chr9:86551000-86570400	Weak transcription	NH-A	brain
15	chr9:86551600-86570000	Weak transcription	Fetal Brain Male	brain
16	chr9:86551600-86570200	Weak transcription	NHEK	skin
17	chr9:86552000-86570400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:86552000-86570400	Weak transcription	Spleen	Spleen
19	chr9:86553000-86570400	Weak transcription	Colonic Mucosa	Colon
20	chr9:86553400-86563200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:86553600-86570000	Strong transcription	Fetal Stomach	stomach
22	chr9:86553800-86569800	Weak transcription	Hela-S3	cervix
23	chr9:86554400-86570400	Weak transcription	Psoas Muscle	Psoas
24	chr9:86554600-86570200	Weak transcription	Brain Substantia Nigra	brain
25	chr9:86554800-86570400	Weak transcription	Pancreas	Pancrea
26	chr9:86554800-86570600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr9:86555400-86570200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr9:86555600-86570200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr9:86556000-86570200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:86556000-86571000	Weak transcription	Gastric	stomach
31	chr9:86556200-86570400	Weak transcription	HSMMtube	muscle
32	chr9:86557000-86571000	Weak transcription	Lung	lung
33	chr9:86557400-86570000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr9:86557400-86570400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr9:86557600-86565600	Weak transcription	Thymus	Thymus
36	chr9:86557600-86566600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr9:86557600-86570200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr9:86557800-86570400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr9:86557800-86570400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:86558000-86570000	Weak transcription	Dnd41	blood
41	chr9:86558000-86570200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:86558000-86570200	Weak transcription	Brain Hippocampus Middle	brain
43	chr9:86558000-86570400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr9:86558000-86571000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr9:86558400-86570200	Weak transcription	Primary T cells from cord blood	blood
46	chr9:86558600-86570200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr9:86558600-86570200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr9:86558600-86570400	Weak transcription	Brain Angular Gyrus	brain
49	chr9:86559000-86565600	Weak transcription	Ovary	ovary
50	chr9:86559200-86564400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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